Variant report

Variant	rs55742804
Chromosome Location	chr8:1732407-1732408
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:1731431..1734296-chr8:1777100..1779564,2	MCF-7	breast:
2	chr8:1727131..1730202-chr8:1731838..1734952,3	K562	blood:
3	chr8:1692732..1694940-chr8:1731254..1732794,2	MCF-7	breast:
4	chr8:1717537..1720996-chr8:1730538..1734244,3	K562	blood:
5	chr8:1730297..1733181-chr8:1733346..1737804,5	K562	blood:
6	chr8:1690830..1693396-chr8:1731671..1734648,2	K562	blood:
7	chr8:1725864..1728236-chr8:1731701..1733830,2	MCF-7	breast:
8	chr8:1728494..1731142-chr8:1732363..1735530,3	MCF-7	breast:
9	chr8:1731117..1733181-chr8:1735872..1737982,3	K562	blood:

No data

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12546965	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55634012	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55991725	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56147268	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56198692	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56298638	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889697	chr8:1238564-1861971	Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv889704	chr8:1563904-1965389	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv889707	chr8:1581839-1920461	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv889708	chr8:1581839-1965389	Genic enhancers Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv889709	chr8:1581839-1965389	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv889711	chr8:1591412-1904157	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv889712	chr8:1591412-2337777	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv889714	chr8:1616718-1965389	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv934075	chr8:1626857-1736355	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1034490	chr8:1654716-1782467	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
11	nsv609527	chr8:1681733-1753497	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
12	nsv870096	chr8:1682851-1767342	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
13	nsv532892	chr8:1687433-1839578	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
14	esv2755149	chr8:1689290-1755281	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
15	nsv465275	chr8:1697086-1768004	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
16	nsv609529	chr8:1697086-1768004	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
17	nsv465276	chr8:1701432-1777571	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
18	nsv609530	chr8:1701432-1777571	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
19	nsv609531	chr8:1717036-1965389	Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
20	nsv932825	chr8:1719042-1736355	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs55742804	CLN8	cis	Esophagus Muscularis	GTEx

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1713400-1735800	Weak transcription	Fetal Brain Male	brain
2	chr8:1718000-1732800	Weak transcription	Fetal Heart	heart
3	chr8:1718000-1736000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:1718400-1733200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr8:1721400-1733800	Weak transcription	Hela-S3	cervix
6	chr8:1721600-1732800	Weak transcription	Right Atrium	heart
7	chr8:1721600-1734200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:1721800-1734000	Weak transcription	Colon Smooth Muscle	Colon
9	chr8:1722000-1734000	Weak transcription	Ovary	ovary
10	chr8:1722200-1734400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr8:1722800-1734200	Weak transcription	Colonic Mucosa	Colon
12	chr8:1724800-1733200	Weak transcription	Brain Germinal Matrix	brain
13	chr8:1725600-1734000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:1726800-1734000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr8:1728000-1735200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr8:1728000-1736000	Weak transcription	Psoas Muscle	Psoas
17	chr8:1728200-1732800	Strong transcription	Sigmoid Colon	Sigmoid Colon
18	chr8:1728200-1733400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:1728200-1735400	Weak transcription	Small Intestine	intestine
20	chr8:1728200-1735600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr8:1728400-1732800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr8:1728400-1733400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr8:1728800-1733400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr8:1728800-1734000	Weak transcription	NH-A	brain
25	chr8:1728800-1734000	Weak transcription	NHLF	lung
26	chr8:1729000-1733400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:1729000-1735400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:1729200-1732600	Strong transcription	Adipose Nuclei	Adipose
29	chr8:1729200-1733000	Strong transcription	Fetal Stomach	stomach
30	chr8:1729400-1734200	Weak transcription	Stomach Mucosa	stomach
31	chr8:1729400-1734800	Weak transcription	Fetal Kidney	kidney
32	chr8:1729600-1732800	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr8:1729600-1733000	Strong transcription	Fetal Intestine Small	intestine
34	chr8:1729800-1732800	Strong transcription	H9 Cell Line	embryonic stem cell
35	chr8:1729800-1735000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr8:1730000-1733000	Strong transcription	Primary B cells from peripheral blood	blood
37	chr8:1730000-1733200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:1730000-1734800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr8:1730000-1735000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr8:1730000-1735000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr8:1730000-1735600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr8:1730200-1733200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr8:1730200-1733400	Strong transcription	Spleen	Spleen
44	chr8:1730200-1735400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr8:1730600-1732800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr8:1731000-1736200	Weak transcription	GM12878-XiMat	blood
47	chr8:1731200-1732600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr8:1731200-1733400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr8:1731200-1734000	Weak transcription	NHDF-Ad	bronchial
50	chr8:1731200-1734400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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